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congenital osteogenesis imperfecta-microcephaly-cataracts syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital osteogenesis imperfecta-microcephaly-cataracts syndrome

MONDO:0009803

Also known as:osteogenesis imperfecta congenita, microcephaly, and cataracts

Overview

Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome is characterized by multiple fractures in the prenatal period, microcephaly and bilateral cataracts. It has been described in three infants all of whom died in utero or a few hours after birth. The mode of inheritance appears to be autosomal recessive.

GeneticsAutosomal recessive

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Microcephaly, Disproportionate short-limb short stature, Posteriorly rotated ears, and Cataract and others; and common findings: Blue sclerae, Decreased calvarial ossification, Hypertelorism, and Abnormal rib morphology and others. 29 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	5	Bowing of limbs due to multiple fractures, Wormian bones, Multiple prenatal fractures

Prognosis

Phenotype severity distribution: 7 very common features, 7 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for congenital osteogenesis imperfecta-microcephaly-cataracts syndrome.

42 publications have been identified in PubMed for congenital osteogenesis imperfecta-microcephaly-cataracts syndrome. Research spans Case Report / Case Series (31%), Basic Science / Preclinical (24%), and Review / Meta-Analysis (21%).

Research Type	Count	% of Total
Patient case studies	13	31%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:43 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:259410

Orphanet

European rare disease database

Orphanet:2772

GARD

Genetic and Rare Diseases Info Center

GARD:4139

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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congenital osteogenesis imperfecta-microcephaly-cataracts syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

congenital osteogenesis imperfecta-microcephaly-cataracts syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications